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NM_001111067.4(ACVR1):c.1203G>T (p.Arg401Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 15, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003199911.2

Allele description [Variation Report for NM_001111067.4(ACVR1):c.1203G>T (p.Arg401Ser)]

NM_001111067.4(ACVR1):c.1203G>T (p.Arg401Ser)

Gene:
ACVR1:activin A receptor type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.1
Genomic location:
Preferred name:
NM_001111067.4(ACVR1):c.1203G>T (p.Arg401Ser)
HGVS:
  • NC_000002.12:g.157760941C>A
  • NG_008004.1:g.119171G>T
  • NM_001105.5:c.1203G>T
  • NM_001111067.4:c.1203G>TMANE SELECT
  • NM_001347663.1:c.1203G>T
  • NM_001347664.1:c.1203G>T
  • NM_001347665.1:c.1203G>T
  • NM_001347666.1:c.1203G>T
  • NM_001347667.2:c.1203G>T
  • NP_001096.1:p.Arg401Ser
  • NP_001104537.1:p.Arg401Ser
  • NP_001334592.1:p.Arg401Ser
  • NP_001334593.1:p.Arg401Ser
  • NP_001334594.1:p.Arg401Ser
  • NP_001334595.1:p.Arg401Ser
  • NP_001334596.1:p.Arg401Ser
  • NC_000002.11:g.158617453C>A
  • NM_001105.4:c.1203G>T
Protein change:
R401S
Molecular consequence:
  • NM_001105.5:c.1203G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001111067.4:c.1203G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347663.1:c.1203G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347664.1:c.1203G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347665.1:c.1203G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347666.1:c.1203G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347667.2:c.1203G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003897168Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 15, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003897168.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1203G>T (p.R401S) alteration is located in exon 9 (coding exon 7) of the ACVR1 gene. This alteration results from a G to T substitution at nucleotide position 1203, causing the arginine (R) at amino acid position 401 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024